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Fusion gene ID: 32878 |
FusionGeneSummary for SCNN1A_PKNOX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SCNN1A_PKNOX1 | Fusion gene ID: 32878 | Hgene | Tgene | Gene symbol | SCNN1A | PKNOX1 | Gene ID | 6337 | 5316 |
| Gene name | sodium channel epithelial 1 alpha subunit | PBX/knotted 1 homeobox 1 | |
| Synonyms | BESC2|ENaCa|ENaCalpha|SCNEA|SCNN1 | PREP1|pkonx1c | |
| Cytomap | 12p13.31 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amiloride-sensitive sodium channel subunit alphaalpha ENaC-2alpha-ENaCalpha-NaCHamiloride-sensitive epithelial sodium channel alpha subunitamiloride-sensitive sodium channel subunit alpha 2epithelial Na(+) channel subunit alphanasal epithelial sodi | homeobox protein PKNOX1PBX/knotted homeobox 1Pbx regulating protein-1homeobox protein PREP-1human homeobox-containing protein | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P37088 | P55347 | |
| Ensembl transtripts involved in fusion gene | ENST00000360168, ENST00000358945, ENST00000540037, ENST00000228916, ENST00000396966, ENST00000543768, ENST00000538979, | ENST00000291547, ENST00000432907, ENST00000607150, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 8 X 6 X 4=192 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SCNN1A [Title/Abstract] AND PKNOX1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | SCNN1A | GO:0035725 | sodium ion transmembrane transport | 24124190 |
| Hgene | SCNN1A | GO:0050891 | multicellular organismal water homeostasis | 24124190 |
| Hgene | SCNN1A | GO:0055078 | sodium ion homeostasis | 24124190 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | OV | TCGA-04-1517-01A | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000360168 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000360168 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-intron | ENST00000360168 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000358945 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000358945 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-intron | ENST00000358945 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| intron-5UTR | ENST00000540037 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| intron-5UTR | ENST00000540037 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| intron-intron | ENST00000540037 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000228916 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000228916 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-intron | ENST00000228916 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000396966 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000396966 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-intron | ENST00000396966 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000543768 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-5UTR | ENST00000543768 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| 5CDS-intron | ENST00000543768 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| intron-5UTR | ENST00000538979 | ENST00000291547 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| intron-5UTR | ENST00000538979 | ENST00000432907 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
| intron-intron | ENST00000538979 | ENST00000607150 | SCNN1A | chr12 | 6483534 | - | PKNOX1 | chr21 | 44424436 | + |
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FusionProtFeatures for SCNN1A_PKNOX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SCNN1A | PKNOX1 |
| Sodium permeable non-voltage-sensitive ion channelinhibited by the diuretic amiloride. Mediates the electrodiffusionof the luminal sodium (and water, which follows osmotically)through the apical membrane of epithelial cells. Plays anessential role in electrolyte and blood pressure homeostasis, butalso in airway surface liquid homeostasis, which is important forproper clearance of mucus. Controls the reabsorption of sodium inkidney, colon, lung and eccrine sweat glands. Also plays a role intaste perception. {ECO:0000269|PubMed:24124190,ECO:0000269|PubMed:8278374}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SCNN1A_PKNOX1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SCNN1A_PKNOX1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SCNN1A | STX1A, NEDD4, WWP2, NEDD4L, HECW1, ITCH, TSG101, WWP1, UBE2I, USP10, SNX3, EPN1, AP1M2, USP2, HGS, CSNK2A1, SCNN1B, SERP1, USP8, HYOU1, DERL1, HUWE1, SCNN1G | PKNOX1 | HOXA1, PAX6, PBX1, RFX3, ZBTB3, POU2F1, TFAP4, APP, HMGB2, VPS37C, MOV10, VPS33A, PBX2, PBX4, VPS16, SAR1B, TRAF1, CCDC120, VWA5A, ACOT7, C5orf24 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SCNN1A_PKNOX1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | SCNN1A | P37088 | DB00384 | Triamterene | Amiloride-sensitive sodium channel subunit alpha | small molecule | approved |
| Hgene | SCNN1A | P37088 | DB00594 | Amiloride | Amiloride-sensitive sodium channel subunit alpha | small molecule | approved |
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RelatedDiseases for SCNN1A_PKNOX1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SCNN1A | C1449843 | Pseudohypoaldosteronism, Type I, Autosomal Recessive | 3 | ORPHANET;UNIPROT |
| Hgene | SCNN1A | C0010674 | Cystic Fibrosis | 2 | CTD_human |
| Hgene | SCNN1A | C0020538 | Hypertensive disease | 2 | CTD_human |
| Hgene | SCNN1A | C0024115 | Lung diseases | 2 | CTD_human |
| Hgene | SCNN1A | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
| Hgene | SCNN1A | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | SCNN1A | C0032914 | Pre-Eclampsia | 1 | CTD_human |
| Hgene | SCNN1A | C0033687 | Proteinuria | 1 | CTD_human |
| Hgene | SCNN1A | C0033805 | Pseudohypoaldosteronism | 1 | CTD_human;HPO |
| Hgene | SCNN1A | C0221043 | Liddle Syndrome | 1 | CTD_human |
| Hgene | SCNN1A | C2751666 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | 1 | CTD_human;UNIPROT |
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